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The TCF4 gene encodes for the basic helix–loop–helix transcription factor 4 (TCF4), which plays an important role in the development of the central nervous system (CNS). Haploinsufficiency of TCF4 was found to cause Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder. Recently, the screening of a large cohort of medulloblastoma (MB), a highly aggressive embryonal brain tumor, reveal
Background Native aortic and mitral valve infective endocarditis (AVE and MVE, respectively) are usually grouped together as left-sided native valve infective endocarditis (LNVE), while the differences between AVE and MVE have not yet been properly investigated. We aimed to compare AVE and MVE in regard to patient characteristics, microbiology and determinants of survival. Methods We conducted a r
Purpose: All types of surgery are associated with complications. The debate is ongoing whether robot-assisted radical prostatectomy can lower this risk compared to open surgery. The objective of the present study was to evaluate post-operative adverse events leading to readmissions, using clinical records to classify these adverse events systematically. Materials and methods: A prospective control
Introduction: When a child is diagnosed with Type 1 diabetes, it involves extensive lifestyle changes for the whole family. There is limited knowledge of the impact the initial care has for children and parents over time. The aim was to compare children’s diabetes-specific health-related quality of life (HRQOL) in hospital-based care and hospital-based home care (HBHC), 12 and 24 months after the
Introduction: There is no definitive cure for Dupuytren disease (DD), and recurrence of finger contractures after treatment is common. Surgical fasciectomy is considered the standard treatment method for recurrence, although associated with a high incidence of complications. Collagenase injection, a non-surgical treatment option, has been shown to be a safe and effective method; however, most stud
OBJECTIVE: To investigate the relationship between 3 markers of apoptosis, that is, FADD (Fas-associated death domain-containing protein), caspase-3, and caspase-8, and incidence of coronary events (CEs) in a population-based cohort study.APPROACH AND RESULTS: In vitro experiments were performed to assess the response of the apoptotic biomarkers after Fas stimulation of peripheral blood mononuclea
BACKGROUND: Circulating C3 has been associated with diabetes and hypertension, which are the leading causes of chronic kidney disease (CKD). C3 activation is considered to contribute to several renal diseases. Here we examined whether elevated C3 concentration is associated with hospitalization due to CKD in the general population, and whether this relationship is mediated by factors such as diabe
Background: There is a close association between non-alcoholic fatty liver disease (NAFLD) and prevalent chronic kidney disease (CKD). Few longitudinal studies exist. No previous study has investigated to what extent CKD affects mortality in biopsy-proven NAFLD. Our aim was to investigate the long-term risk of developing CKD in biopsy-proven NAFLD and its effect on mortality. Methods: Patients wi
1. Often, closely related insect species feed on different host plant species, and the tremendous diversity of phytophagous insects is therefore attributed to host plant-driven speciation. However, for most taxa, host use information comes from field observations of egg-laying females or feeding caterpillars, which means that the underlying reason for a particular host-affiliation is not easily de
Background: Long-term use of opioid analgesics (OA) for chronic pain may result in opioid use disorder (OUD). This is associated with adverse outcomes for individuals, families and society. Treatment needs of people with OUD related to chronic pain are different compared to dependence related to use, and also injection, of illicit opioids. In Nordic countries, day-to-day practical advice to assist
The burden of mental disorders continues to grow and is now a leading cause of disability worldwide. The prevalence of mental disorders is unequal between population subgroups, and these disorders are associated with unfavourable consequences in social and economic conditions, health and survival. However, how the negative effects of mental disorders are distributed among population subgroups is lThe burden of mental disorders continues to grow and is now a leading cause of disability worldwide. The prevalence of mental disorders is unequal between population subgroups, and these disorders are associated with unfavourable consequences in social and economic conditions, health and survival. However, how the negative effects of mental disorders are distributed among population subgroups is l
Climate change projections show that temperature and precipitation increases can alter the exchange of greenhouse gases between the atmosphere and high latitude landscapes, including their freshwaters. Dissolved organic carbon (DOC) plays an important role in greenhouse gas emissions, but the impact of catchment productivity on DOC release to subarctic waters remains poorly known, especially at re
Background: Several factors have been reported that influence the probability of a germline CDKN2A mutation in a melanoma family. Our goal was to create a scoring system to estimate this probability, based on a set of clinical features present in the patient and his or her family. Methods: Five clinical features and their association with CDKN2A mutations were investigated in a training cohort of
Insect distributions are shifting rapidly in response to climate change and are undergoing rapid evolutionary change. We investigate the molecular signatures underlying local adaptation in the range-expanding damselfly, Ischnura elegans. Using a landscape genomic approach combined with generalized dissimilarity modelling (GDM), we detect selection signatures on loci via allelic frequency change al
To manage risks in Western society is increasingly seen as a process of including the public in different deliberative and/or participatory projects. This is sometimes done via civil society organisations (CSOs) that also have a second role as gatekeepers, managing or constraining flows of knowledge and information. This paper aims to analyse the dual role of CSOs in the management of chemical ris
